International journal of pediatric otorhinolaryngology最新文献

{"title":"MED-EL Bonebridge implantation in pediatric patients age 11 Years and younger: Is it safe and effective?","authors":"Kaitlyn A Brooks, Anastasia Kolousek, Erin K Holman, Sean S Evans, Nandini Govil, Kristan P Alfonso","doi":"10.1016/j.ijporl.2024.112198","DOIUrl":"https://doi.org/10.1016/j.ijporl.2024.112198","url":null,"abstract":"<p><strong>Objective: </strong>To present our experience with off-label MED-EL Bonebridge implantation in pediatric patients younger than 12 years of age and compare outcomes to pediatric patients 12 years and older.</p><p><strong>Methods: </strong>Pediatric patients who underwent Bonebridge implantation were included in a retrospective cohort study and were categorized by off-label use (<12 years) and ≥12 years at time of bone conduction implantation (BCI). Hearing outcomes were collected after implant activation, which was typically 4-8 weeks post-implantation. Mann-Whitney U tests were performed to assess for differences between audiometric outcomes. Significance was set at p < 0.05.</p><p><strong>Results: </strong>Twenty patients (25 implants) < 12 years of age and 17 patients (23 implants) ≥12 years of age underwent BCI. Pre-BCI speech recognition threshold (SRT) was better for the older patient group (median 50 dB) than the younger patient group (median 60 dB). Post-BCI SRT, however, was significantly lower in the younger patient group (median 22.5 dB) as compared to the older patient group (median 35 dB), (p < 0.001, Z = 3.1). The two groups performed similarly on age-appropriate wordlists presented at 50 dB HL in aided conditions (p > 0.05, -1<Z < 1). Postoperative complication rate was low for both age groups (9 % vs 8 %) and operative time was similar for both groups of patients (p=0.96, Z=0.52).</p><p><strong>Conclusion: </strong>Pediatric patients younger than 12 years showed similar or better audiometric benefit from off-label Bonebridge implantation when compared to older patients. Pediatric patients younger than 12 years can be considered Bonebridge implant candidates if clinically indicated; Bonebridge implantation in this age group appears safe and technically feasible.</p>","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"188 ","pages":"112198"},"PeriodicalIF":1.2,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142822152","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is COVID-19 infection during pregnancy a risk for congenital hearing loss?","authors":"Jane Sheehan, Alison Jagger, Kate L Francis, S Ghazaleh Dashti, Patrick Gornall, Melinda Barker, Valerie Sung, Sergio Ruiz-Carmona, Susan Baohm, Zeffie Poulakis","doi":"10.1016/j.ijporl.2024.112191","DOIUrl":"https://doi.org/10.1016/j.ijporl.2024.112191","url":null,"abstract":"<p><strong>Objective: </strong>Infections during pregnancy can increase the risk of congenital hearing loss. This population-based study investigated the effect of birthing parent COVID-19 infection during pregnancy on risk of congenital hearing loss in infants.</p><p><strong>Methods: </strong>Records of infants born in 2022 were reviewed via a retrospective clinical audit of a universal state-wide newborn hearing screening program in Victoria, Australia. The number and timing of COVID-19 infections during pregnancy were collected via self-report at the time of the hearing screen. Infant records (n = 75,330) were divided into birthing parent infection group (n = 25,547, 33.9 %), and non-infection group (n = 49,783, 66.1 %). Group differences in screen and diagnostic audiology results were estimated by general linear regression models with a binomial distribution.</p><p><strong>Results: </strong>Birthing parent and infant characteristics were similar across groups. Comparable proportions of infants obtained a refer result on their newborn hearing screen, requiring referral to diagnostic audiology (infection group: 1.4 %, 95%CI 1.2-1.5 versus non-infection group: 1.3 %, 95%CI 1.2-1.4). The proportion of infants diagnosed with any type and degree of hearing loss was also similar (infection group: 0.6 %, 95%CI 0.5-0.7 versus non-infection group: 0.6 %, 95%CI 0.6-0.7).</p><p><strong>Conclusion: </strong>This epidemiological study is the largest to date and demonstrates that infants whose birthing parent reported COVID-19 infection during pregnancy were not at increased risk of obtaining a refer result on their newborn hearing screen, nor at increased risk of congenital hearing loss. Specific protocols or guidelines to manage the newborn hearing screening pathway of infants born to a parent with COVID-19 during pregnancy are not supported by this study's findings.</p>","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"188 ","pages":"112191"},"PeriodicalIF":1.2,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824084","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autoimmune etiologies in pediatric recurrent parotitis: A retrospective analysis of patients referred to rheumatology.","authors":"Maya Guhan, Yiressy Pina, Elton Lambert, Maria Pereira, Marietta De Guzman","doi":"10.1016/j.ijporl.2024.112192","DOIUrl":"https://doi.org/10.1016/j.ijporl.2024.112192","url":null,"abstract":"","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"188 ","pages":"112192"},"PeriodicalIF":1.2,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142828524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Electrophysiological findings of brainstem auditory evoked potentials in infants with down syndrome: A systematic review and meta-analysis.","authors":"Fabiane Zimmermann, Georgea Espindola Ribeiro, Josiane Hoffmann, Daniela Polo Camargo da Silva","doi":"10.1016/j.ijporl.2024.112188","DOIUrl":"https://doi.org/10.1016/j.ijporl.2024.112188","url":null,"abstract":"<p><strong>Objective: </strong>to summarize the evidence on the electrophysiological findings in the auditory brainstem response (ABR) in infants with DS.</p><p><strong>Material and methods: </strong>This is a systematic review study, whose protocol was registered in the International Prospective Register of Systematic Reviews (PROSPERO CRD42023424139) and conducted in accordance with the recommendations of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). Observational studies were included: cross-sectional and cohort studies that performed ABR evaluation in infants with DS up to two years of age, which had their results compared with normal infants, of the same age group. The search for studies was performed in the following databases: PubMed, LILACS, Scopus, CINHAL, Web of Science, Scielo, Embase and LIVIVO, and in the gray literature: Google Scholar and Proquest. There were no restrictions on language or publication date. The methodological quality of the included studies was assessed using the JBI (Joanna Briggs Institute) checklist. Phases 1 (reading of titles and abstracts) and 2 (reading in full), data extraction, assessment of methodological quality and certainty of evidence were performed independently by the reviewers. Existing disagreements were resolved in a consensus meeting.</p><p><strong>Results: </strong>A total of 494 articles were obtained, which after removal of duplicates and independent analysis by the reviewers, ten studies were selected for qualitative synthesis and four studies were selected for meta-analysis. There was heterogeneity between the effects observed in the ABR parameters (I2 = 78 %) with an overall pooled effect size of -0.05 (95 % confidence interval of -0.13-0.03; p = 0.22) indicating no significant difference in ABR responses between groups. The certainty of the evidence assessed by GRADE was considered very low due to inconsistency and imprecision.</p><p><strong>Conclusion: </strong>The results of the meta-analysis indicate that there are no significant diferences in ABR parameters, including waves I, III, and V and the I - V interpeak interval, between infants with and without DS up to two years of age. However, the limitations found, such as methodological heterogeneity, small sample sizes and variability in the age range of the participants, generated uncertainty in the results. Therefore, the certainty of the evidence was classified as very low, according to the GRADE methodology.</p>","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"188 ","pages":"112188"},"PeriodicalIF":1.2,"publicationDate":"2024-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of COVID-19 on newborn hearing screening (NBHS) and early hearing detection and intervention (EHDI) services: A statewide analysis of differences and policy implications.","authors":"Peter Kfoury, Jordan C Stout, Stephanie Browning McVicar, Max Sidesinger, Eun Kyung Jeon, Kathryn Tonkovich, Chelsea M Allen, Matthew A Firpo, Albert H Park","doi":"10.1016/j.ijporl.2024.112187","DOIUrl":"https://doi.org/10.1016/j.ijporl.2024.112187","url":null,"abstract":"<p><strong>Introduction: </strong>This study investigates the pandemic's impact on newborn hearing screening (NBHS) and access to hearing services for children in Utah. Specifically, it explores the differences in NBHS rates, diagnostic hearing testing, early intervention enrollment, and congenital cytomegalovirus (cCMV) screening before and during the pandemic.</p><p><strong>Methods: </strong>Utilizing a comprehensive statewide Early Hearing Detection and Intervention (EHDI) database, we analyzed data from January 2017 to December 2021, excluding a 6-month period preceding March 16, 2020, to eliminate potential confounders related to pandemic onset. We assessed NBHS completion rates, time to diagnose hearing loss, early intervention referrals, and cCMV screening. Multivariable logistic regression analysis was employed to identify factors influencing timely completion of the EHDI milestones.</p><p><strong>Results: </strong>Our study included 192,161 newborns in Utah. Although over 99 % of newborns underwent NBHS, differences were noted among those born in small towns, rural locations, home births, and self-pay situations. Births in metropolitan areas witnessed an increased proportion of NBHS and timely diagnostic ABR during the pandemic. While home births increased from 3 % of births in 2017 to 5 % in 2021, the proportion of home births who received NBHS also increased from 89.4 % pre-COVID to 96.2 % during the pandemic (p < 0.0001). The rate of timely ABR testing and EI services increased during the pandemic.</p><p><strong>Conclusion: </strong>The COVID-19 pandemic did not considerably alter NBHS rates, and overall, the rates of timely ABR diagnosis and timely EI services in the state of Utah increased during the pandemic.</p>","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"188 ","pages":"112187"},"PeriodicalIF":1.2,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142806958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of type of delivery and anesthesia method to ABR results on newborn hearing screening.","authors":"Semih Guler, Ayse Sanem Sahli, Murat Dogan","doi":"10.1016/j.ijporl.2024.112185","DOIUrl":"https://doi.org/10.1016/j.ijporl.2024.112185","url":null,"abstract":"<p><strong>Objectives: </strong>The aim of this study is to examine the effect of type of delivery and anesthesia method on the screening ABR test results of newborns within the scope of the Newborn Hearing Screening Program (NHCP) and to investigate the relationship between the test results and the relevant variables.</p><p><strong>Methods: </strong>441 newborns were included in the study. Of these newborns, 221 constituted the control group (normal (vaginal) delivery), and 220 constituted the study group (cesarean section, delivery). In the study, all newborns whose hearing was evaluated within the scope of the Newborn Screening Program were screened twice. Screening ABR test results applied were compared considering the type of delivery (normal (vaginal) or cesarean section) and anesthesia method (spinal or general). The effects of variables such as the duration of the baby's separation (dissection) from the mother's womb, the duration of exposure to the anesthetic agent and the total duration of the surgical procedure were examined.</p><p><strong>Results: </strong>As a result of the study, a statistically significant relationship was found between delivery type (normal (vaginal) or cesarean section) and anesthesia method (spinal or general) and first screening ABR test results (p < 0.001). While there was a statistically significant difference (p < 0.001) in terms of separation time from the mother's womb (p < 0.001) and exposure to an anesthetic agent among the first test screening ABR results of newborns born under general anesthesia, there was no statistically significant difference (p < 0.001) in terms of total surgical procedure time (p = 0.106) no difference was detected. There was no statistically significant difference between ABR test results and these three variables in newborns born under spinal anesthesia (p > 0.05).</p><p><strong>Conclusions: </strong>The type of delivery newborns and the anesthesia method used at delivery may affect the results of screening ABR applied within the scope of a newborn hearing screening protocol. For this reason, it is very important to perform screening tests at the most appropriate and correct time.</p>","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"188 ","pages":"112185"},"PeriodicalIF":1.2,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142828525","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Holiday letter 2024.","authors":"Joseph E Kerschner","doi":"10.1016/j.ijporl.2024.112178","DOIUrl":"https://doi.org/10.1016/j.ijporl.2024.112178","url":null,"abstract":"","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":" ","pages":"112178"},"PeriodicalIF":1.2,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142806956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Accidental tracheostomy decannulation: Risk factors and complications in pediatric patients using the NSQIP-P database","authors":"Jacob Heninger ,&nbsp;Arkadeep Ghosh ,&nbsp;Matthew Rowland ,&nbsp;Inbal Hazkani ,&nbsp;Taher Valika ,&nbsp;Eric C. Cheon","doi":"10.1016/j.ijporl.2024.112174","DOIUrl":"10.1016/j.ijporl.2024.112174","url":null,"abstract":"<div><h3>Background</h3><div>Accidental tracheostomy decannulation (ATD) is a life-threatening event in pediatric patients. The factors associated with ATD in children are largely unknown. Utilizing the National Surgical Quality Improvement Pediatric (NSQIP-P) dataset, we sought to identify the incidence of ATD and associated factors.</div></div><div><h3>Methods</h3><div>Patients who underwent surgery at continuously enrolled American College of Surgeons NSQIP-P hospitals from January 1, 2012, to December 31, 2021, were included. Those who underwent a tracheostomy (CPT 31600 or 31601) as a primary or concurrent procedure were analyzed. ATD was defined by the NSQIP-P REINTUB variable. Multivariable logistic regression analysis and propensity score matching were performed to identify independent associations between demographic variables, relevant comorbidities, intraoperative factors, and ATD. Multivariable regression analyses were performed to identify any association between ATD and unplanned reoperation, pneumonia, extended length of stay, and death in 30 days in both pre-matched and matched cohorts.</div></div><div><h3>Results</h3><div>A total of 5229 patients undergoing tracheostomy were included in the final analysis for the pre-matched cohort. ATD occurred in 93 (1.8 %) patients, with 42 % (n = 39) of these cases occurring within the first two postoperative days. In the matched cohort, female gender (<em>P</em> = 0.002) and structural pulmonary/airway abnormality (<em>P</em> = 0.016) were independently associated with ATD. Additionally, ATD was associated with unplanned reoperation (<em>P</em> &lt; 0.001) and pneumonia (<em>P</em> = 0.024). The pre-matched cohort showed consistent results with the matched cohort.</div></div><div><h3>Discussion</h3><div>Accidental decannulation is a serious complication following pediatric tracheostomy. By identifying patients at higher risk for ATD and the timing of its occurrence, providers can employ measures targeting these patients during their highest risk period. The sequelae associated with ATD further emphasize the importance of preventing this complication.</div></div>","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"187 ","pages":"Article 112174"},"PeriodicalIF":1.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142757151","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Age-dependent trends in pediatric maxillary frenum classification","authors":"Alexandra F. Corbin ,&nbsp;Lauren A. DiNardo ,&nbsp;Deepthi S. Akella ,&nbsp;Alison C. Ma ,&nbsp;Douglas P. Nanu ,&nbsp;Francesca C. Viola ,&nbsp;Michele M. Carr","doi":"10.1016/j.ijporl.2024.112173","DOIUrl":"10.1016/j.ijporl.2024.112173","url":null,"abstract":"<div><h3>Objective</h3><div>To describe maxillary frenum Kotlow scores in a pediatric population.</div></div><div><h3>Methods</h3><div>A retrospective chart review was performed for children ages 0–19 years old seen at a pediatric otolaryngology clinic by one surgeon from March–December 2022. Inclusion criteria required a recorded maxillary frenum Kotlow score. Data collected included age, gender, race/ethnicity, Kotlow score, and history of maxillary frenotomy.</div></div><div><h3>Results</h3><div>570 children were included, comprising 267 (46.8%) females, 302 (53.0%) males, and 1 (0.2%) transgender male. Mean age was 5.0 years (95% CI 4.6–5.4). 24 patients (4.2%) had a history of maxillary frenotomy, while 546 (95.8%) did not. Among those with no maxillary frenotomy history, 21 (3.8%) had a Kotlow 1, 127 (23.3%) Kotlow 2, 261 (47.8%) Kotlow 3, and 137 (25.1%) Kotlow 4. Kotlow scores decreased with age. For children with prior maxillary frenotomy, class 1 frenum mean age was 6.9 years, and class 4 was 0.6 years (P=.008). For those without a maxillary frenotomy history, class 1 frenum mean age was 8.7 years, and class 4 was 1.3 years (P&lt;.001). No association was found between maxillary frenotomy history and lower Kotlow scores.</div></div><div><h3>Conclusion</h3><div>Nearly half of children have a Kotlow 3 maxillary frenum. Kotlow scores decrease as children age, reflecting elevated frenum insertion as the alveolar ridge develops. Otolaryngologists may find this data valuable when considering maxillary frenotomy in children.</div></div>","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"187 ","pages":"Article 112173"},"PeriodicalIF":1.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142759313","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An innovative CRISPR/Cas9 mouse model of human isolated microtia indicates the potential contribution of CNVs near HMX1 gene","authors":"Wenshan Xing ,&nbsp;Jiao Zhang ,&nbsp;Tun Liu ,&nbsp;Yue Wang ,&nbsp;Jin Qian ,&nbsp;Bingqing Wang ,&nbsp;Yongbiao Zhang ([email protected]) ,&nbsp;Qingguo Zhang","doi":"10.1016/j.ijporl.2024.112141","DOIUrl":"10.1016/j.ijporl.2024.112141","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Background&lt;/h3&gt;&lt;div&gt;Microtia is a prevalent congenital malformation, the precise etiology and pathogenesis of which remain elusive. Mutations in the non-coding region of the &lt;em&gt;HMX1&lt;/em&gt; gene have been implicated in isolated cases of microtia, emerging as a significant focus of contemporary research. Several pathogenic copy number variations (CNVs) proximal to the &lt;em&gt;HMX1&lt;/em&gt; gene have been documented in wild animal populations, whereas only a single large segmental duplication in this region has been identified in humans. However, the absence of a gene-edited animal model has impeded the investigation of the unclear gene function associated with &lt;em&gt;HMX1&lt;/em&gt; mutations in human isolated microtia. In this study, we sought to precisely identify the pathogenic mutation by analyzing three pedigrees alongside population controls. Subsequently, our objective was to develop a CRISPR/Cas9 gene-edited mouse model to elucidate the functional implications of the identified mutation.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Methods&lt;/h3&gt;&lt;div&gt;Genomic DNA was collected from 32 affected individuals across three pedigrees, as well as from 2000 control subjects. Comprehensive genomic analyses, including genome-wide linkage analysis, targeted capture, second-generation sequencing, and copy number analysis, were conducted to identify potential mutations associated with congenital auricle malformation. CRISPR/Cas9 gene-edited murine models were generated in response to the identified mutation. The auricular phenotypes of these gene-edited mice were systematically monitored. Small-animal Micro-CT scanning was employed to identify potential craniofacial or skeletal abnormalities. Furthermore, the expression of the &lt;em&gt;HMX1&lt;/em&gt; gene in the PA2 region of mouse embryos was quantified using RT-qPCR.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;div&gt;A co-segregated 600 base pair duplication located on chromosome 4 (chr4:8701900-8702500, hg19) was identified in affected individuals across three pedigrees, but was absent in healthy controls. Two types of CRISPR/Cas9 gene-edited mice were subsequently generated. The knock-in (KI) mouse model was engineered by inserting one copy of the duplicated sequence directly adjacent to the mutated site, whereas the knockout (KO) mouse model was created by excising the mutation sequence. The phenotypes of different group of CRISPR/Cas9 gene-edited mice demonstrated distinct auricular deformities. Furthermore, an increase in the copy number of the mutated sequence was associated with elevated expression levels of &lt;em&gt;HMX1&lt;/em&gt; in the gene-edited mouse model.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Conclusions&lt;/h3&gt;&lt;div&gt;In this study, we further narrowed down and identified a 600 base pair copy number variation (CNV) located at chr4:8701900-8702500 (hg19), which is implicated in human bilateral, isolated microtia. Utilizing CRISPR/Cas9 technology, we developed novel mouse models harboring the identified mutation. These models serve as a robust platform for the comprehensive invest","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"187 ","pages":"Article 112141"},"PeriodicalIF":1.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142745198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}